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Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 6, pp. 809 - 821
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 986 - 1001
Journal Article
Blood, ISSN 0006-4971, 03/2016, Volume 127, Issue 11, pp. 1387 - 1397
Journal Article
Nature Immunology, ISSN 1529-2908, 12/2012, Volume 13, Issue 12, pp. 1178 - 1186
Journal Article
Journal Article
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Blood, ISSN 0006-4971, 2013, Volume 121, Issue 16, pp. 3112 - 3116
Journal Article
by Coulter, Tanya I., MRCPI|Chandra, Anita, PhD, FRCPath|Bacon, Chris M., PhD, FRCPath|Babar, Judith, MRCP, FRCR|Curtis, James, PhD|Screaton, Nick, FRCP, FRCR|Goodlad, John R., MD, FRCPath|Farmer, George, MD|Steele, Cathal Laurence, MB|Leahy, Timothy Ronan, MRCPI|Doffinger, Rainer, PhD, FRCPath|Baxendale, Helen, PhD, FRCPath|Bernatoniene, Jolanta, PhD|Edgar, J. David M., FRCP, FRCPath|Longhurst, Hilary J., PhD, FRCPath|Ehl, Stephan, MD, PhD|Speckmann, Carsten, MD|Grimbacher, Bodo, MD, PhD|Sediva, Anna, MD, PhD|Milota, Tomas, MD|Faust, Saul N., PhD, FRCPCH|Williams, Anthony P., PhD, FRCPath|Hayman, Grant, FRCP, FRCPath|Kucuk, Zeynep Yesim, MD|Hague, Rosie, MRCP, FRCPH|French, Paul, MD, MRCS, DipFMS, FRCPath|Brooker, Richard, FRCPCH|Forsyth, Peter, FRCPath|Herriot, Richard, FRCP, FRCPath|Cancrini, Caterina, MD, PhD|Palma, Paolo, MD, PhD|Ariganello, Paola, MD|Conlon, Niall, PhD, FRCPath|Feighery, Conleth, PhD, FRCPath|Gavin, Patrick J., MD|Jones, Alison, PhD, FRCPCH|Imai, Kohsuke, MD, PhD|Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath|Markelj, Gašper, MD|Abinun, Mario, MD, PhD|Rieux-Laucat, Frédéric, PhD|Latour, Sylvain, PhD|Pellier, Isabelle, MD, PhD|Fischer, Alain, MD, PhD|Touzot, Fabien, MD, PhD|Casanova, Jean-Laurent, MD, PhD|Durandy, Anne, MD, PhD|Burns, Siobhan O., MD, PhD|Savic, Sinisa, PhD, FRCPath|Kumararatne, D.S., FRCPath, DPhil (Oxon)|Moshous, Despina, MD, PhD|Kracker, Sven, PhD|Vanhaesebroeck, Bart, PhD, FMedSci|Okkenhaug, Klaus, PhD|Picard, Capucine, MD, PhD|Nejentsev, Sergey, MD, PhD|Condliffe, Alison M., PhD, FRCP|Cant, Andrew James, MD, FRCP, FRCPH
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in... 
Allergy and Immunology | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Activated phosphoinositide 3-kinase delta syndrome | IMMUNOLOGICAL FEATURES | HYPER-IGM SYNDROME | p110 delta-activating mutation causing senescent T cells | hematopoietic stem cell | COMMON VARIABLE IMMUNODEFICIENCY | PIK3CD | IMMUNOLOGY | lymphadenopathy | REFERENCE VALUES | P110-DELTA | CT | phosphoinositide 3-kinase delta | P110 DELTA | B-CELL | ALLERGY | transplantation | MUTATIONS | Recurrence | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Young Adult | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Adult | Female | Surveys and Questionnaires | Herpesviridae Infections - genetics | Child | Immunologic Deficiency Syndromes - therapy | Hematopoietic Stem Cell Transplantation | International Cooperation | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Animals | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Survival Analysis | Immunologic Deficiency Syndromes - genetics | Mice | Cohort Studies | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
Journal Article